期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

基因技术在儿科疾病诊治中的应用

下载PDF
导出
摘要 从事儿科专业的医生都熟知,儿科疾病的特点是先天性疾病、遗传性疾病、感染性疾病较成年人多,但不论哪类疾病都与基因有着千丝万缕的联系。先天性疾病与遗传性疾病自不必提,就感染性疾病而言,同样的病原感染,有的患儿表现轻微,有的患儿十分严重,以致危及生命;同样的疾病,不同个体对同样的治疗方案反应不同,这些都可能是个体基因差异造成的。疾病的发生是内在因素与外在因素共同作用的结果,内在因素就是遗传因素,外在因素包括生活方式、
作者 师晓东 李娟娟
机构地区 首都儿科研究所附属儿童医院血液科
出处 《中国医刊》 CAS 2015年第10期20-22,共3页 Chinese Journal of Medicine
关键词 儿科疾病 儿科专业 遗传性疾病 感染性疾病 先天性疾病 病原感染 基因技术 基因差异 基因突变 外在因素
分类号 R725.5 [医药卫生—儿科]
  • 相关文献

参考文献11

  • 1李娟娟,刘嵘,李君惠,李龙,师晓东.Wiskott-Aldrich综合征5例基因突变并文献复习[J].中国医刊,2015,50(8):71-74. 被引量：3
  • 2De Roock W,De Vriendt V,Normanno N,et al.KRAS,BRAF,PIK3 CA,and PTEN mutations:implications for targeted therapies in metastatic colorectal cancer[J].Lancet Oncol,2011,12(6):594-603.
  • 3Li FP,Fraumeni JF Jr.Soft-tissue sarcomas,breast cancer,and other neoplasms.A familial syndrome[J].Ann Intern Med,1969,71(4):747-752.
  • 4Varley JM.Germline TP53 mutations and Li-Fraumeni syndrome[J].Hum Mutat,2003,21(3):313-320.
  • 5Radford SA,Johnson EM,Wamock DW.In vitro studies of activity of voriconazole (UK-109,496),a new triazole antifungal agent,against emerging and less-common mold pathogens[J].Antimicrob Agents Chemother,1997,41(4):841-843.
  • 6Smith J,Safdar N,Knasinski V,et al.Voriconazole therapeutic drug monitoring[J].Antimicrob Agents Chemother,2006,50(4):1570-1572.
  • 7Davies-Vorbrodt S,Ito JI,Tegtmeier BR,et al.Voriconazole serum concentrations in obese and overweight immunocompromised pa- tients:a retrospective review[J].Pharmacotherapy,2013,33(1):22-30.
  • 8Sim SC,Risinger C,Dahl ML,et al.A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant Idt the drug response to proton pump inhibitors and antidepressants[J].Clin Pharmacol Ther,2006,79(1):103-113.
  • 9Haughton C,O' Connor M,Lehinann L.A retrospective review of nutritional status as reflected by weight change in pediatric patients post allogeneic matched family stem cell transplant[J].Biology of Biood and Marrow Transplantation,2014,20(2 Supplement):SiOO.
  • 10Kim H,Cho C,Cho Y,et al.Significant associations of PAI-I genet- ic polymorphisms with osteonecrosis of the femoral head[J].BMC Musculoskeletal Disord,2011(12):160.

二级参考文献17

  • 1Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome [ J]. Allergy Clin Immunol, 2006, 117(4) :725-738.
  • 2Zhe Q, Zhang M, Blaese RM, et al. The Wiskott-Aldfich syndrome and X-linked congential thrombocytopenia are caused by mutations of the same gene [J]. Blood, 1995, 86(10) :3797-3804.
  • 3Mahlaoui N, Pellier I, Mignot C, et al. Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome [ J ]. Blood, 2013, 121(9) :1510-1516.
  • 4Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, patho- physiology and treatment of the Wiskott-Aldrich syndrome [ J ]. Curt Opin Hematol, 2011, 18( 1 ) :42-48.
  • 5Albert MH, Bittner TC, Nonoyama S, et al. X-inked thrombocyto- penia (XLT) due to WAS mutations: Clinical characteristics, long- term outcome, and treatment options [ J ]. Blood, 2010, 115 ( 16 ) : 3231-3238.
  • 6Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott- Aldrich Syndrome Protein (WASP) : hotspots, effect on transcrip- tion, and translation and phenotype/genotype correlation[ J]. Blood, 2004,104 ( 13 ) :4010-4019.
  • 7lmai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations [ J ]. Blood, 2004,103 ( 2 ) :456-464.
  • 8Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X- linked thrombocytopenia: WASP gene mutations, protein expres- sion, and phenotype [ J ]. Blood, 1997, 90 (7) :2680-2689.
  • 9Fischer A, Hacein-Bey-Abina S, Cavazzana-Caivo M. Gene therapy of primary T cell immanodeficiencies [ J ]. Gene, 2013,525 ( 2 ) : 170-173.
  • 10Auiti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome [J]. Science,2013,341 (6148) :1233151.

共引文献2

中国医刊
2015年 第10期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部